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Article

A novel mutation in the promotor region in a family with a mild form of retinoblastoma indicates the location of a new regulatory domain for the RB1 gene.

Oncogene - 18 Jan 1996

Cowell J K, Bia B, Akoulitchev A

Abstract excerpt

We describe a family segregating the retinoblastoma phenotype where the affected individuals have only unifocal tumours and where linkage analysis has identified unaffected mutant gene carriers. DNA from members of this 'low penetrance' pedigree was subjected to an exon-by-exon SSCP analysis of t...

Topics

Base Sequence
Eye Neoplasms
Gene Expression Regulation, Neoplastic
Genes, Retinoblastoma
Humans
Molecular Sequence Data
Mutation
Promoter Regions, Genetic
Retinoblastoma

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8570221

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8570221-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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A novel mutation in the promotor region in a family with a mild form of retinoblastoma indicates the location of a new regulatory domain for the RB1 gene.PMID 8570221Read ↗

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Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma.Semantic proximity Read ↗

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A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.Semantic proximity Read ↗

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